| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Dorothy Yanling Zhao, Gerald Gish, Ulrich Braunschweig, Yue Li, Zuyao Ni, Frank W Schmitges, Guoqing Zhong, Ke Liu, Weiguo Li, Jason Moffat, Masoud Vedadi, Jinrong Min, Tony J Pawson, Benjamin J Blencowe, Jack F Greenblat. SMN and symmetric arginine dimethylation of RNA polymerase II C-terminal domain control termination. Nature. vol 529. issue 7584. 2016-01-25. PMID:26700805. |
smn interacts with senataxin, which is sometimes mutated in ataxia oculomotor apraxia type 2 and amyotrophic lateral sclerosis. |
2016-01-25 |
2023-08-13 |
human |
| Minwoo Lee, Nan Young Kim, Jin Young Huh, Young Eun Kim, Yun Joong Ki. Ataxia with Oculomotor Apraxia Type 1 without Oculomotor Apraxia: A Case Report. Journal of clinical neurology (Seoul, Korea). vol 12. issue 1. 2016-01-12. PMID:26541496. |
ataxia with oculomotor apraxia type 1 without oculomotor apraxia: a case report. |
2016-01-12 |
2023-08-13 |
Not clear |
| Craig L Bennett, Albert R La Spad. Unwinding the role of senataxin in neurodegeneration. Discovery medicine. vol 19. issue 103. 2015-11-16. PMID:25725227. |
dominantly inherited mutations were documented in rare juvenile-onset, motor neuron disease pedigrees in a familial form of amyotrophic lateral sclerosis (als4), while recessive mutations were found to cause a severe early-onset ataxia with oculomotor apraxia (aoa2) that is actually the second most common recessive ataxia after freidreich's ataxia. |
2015-11-16 |
2023-08-13 |
Not clear |
| Rick van Minkelen, Miriam Guitart, Conxita Escofet, Grace Yoon, Peter Elfferich, Galhana M Bolman, Robert van der Helm, Raoul van de Graaf, Ans M W van den Ouwelan. Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1. BMC medical genetics. vol 16. 2015-10-19. PMID:26285866. |
complete aptx deletion in a patient with ataxia with oculomotor apraxia type 1. |
2015-10-19 |
2023-08-13 |
Not clear |
| Rick van Minkelen, Miriam Guitart, Conxita Escofet, Grace Yoon, Peter Elfferich, Galhana M Bolman, Robert van der Helm, Raoul van de Graaf, Ans M W van den Ouwelan. Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1. BMC medical genetics. vol 16. 2015-10-19. PMID:26285866. |
ataxia with oculomotor apraxia type 1 is an autosomal-recessive neurodegenerative disorder characterized by a childhood onset of slowly progressive cerebellar ataxia, followed by oculomotor apraxia and a severe primary motor peripheral axonal motor neuropathy. |
2015-10-19 |
2023-08-13 |
Not clear |
| Rick van Minkelen, Miriam Guitart, Conxita Escofet, Grace Yoon, Peter Elfferich, Galhana M Bolman, Robert van der Helm, Raoul van de Graaf, Ans M W van den Ouwelan. Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1. BMC medical genetics. vol 16. 2015-10-19. PMID:26285866. |
ataxia with oculomotor apraxia type 1 is caused by bi-allelic mutations in aptx (chromosome 9p21.1). |
2015-10-19 |
2023-08-13 |
Not clear |
| Maria Andrea Desbats, Giada Lunardi, Mara Doimo, Eva Trevisson, Leonardo Salviat. Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency. Journal of inherited metabolic disease. vol 38. issue 1. 2015-10-08. PMID:25091424. |
coq(10) deficiency can also be observed in patients with defects unrelated to coq(10) biosynthesis, such as rc defects, multiple acyl-coa dehydrogenase deficiency, and ataxia and oculomotor apraxia.patients with both primary and secondary deficiencies benefit from high-dose oral supplementation with coq(10). |
2015-10-08 |
2023-08-13 |
Not clear |
| Joanna Pera, Sarah Lechner, Saskia Biskup, Magdalena Strach, Tomasz Grodzicki, Agnieszka Slowi. Two novel mutations of the SETX gene and ataxia with oculomotor apraxia type 2. Clinical neurology and neurosurgery. vol 128. 2015-09-28. PMID:25462094. |
two novel mutations of the setx gene and ataxia with oculomotor apraxia type 2. |
2015-09-28 |
2023-08-13 |
Not clear |
| João Stein Kannebley, Laura Silveira-Moriyama, Laís Orrico Donnabella Bastos, Carlos Eduardo Steine. Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis. JIMD reports. vol 24. 2015-09-25. PMID:26108645. |
all subjects presented with short stature, dysostosis multiplex, dysarthria, and impairment of activities of daily living, 10/12 had extrapyramidal signs, 8/12 had pyramidal signs, 8/12 had oculomotor abnormalities, 4/12 had behavioral alterations, and 2/12 had ataxia. |
2015-09-25 |
2023-08-13 |
human |
| Ludovico Ciolli, Florian Krismer, Ferdinando Nicoletti, Gregor K Wennin. An update on the cerebellar subtype of multiple system atrophy. Cerebellum & ataxias. vol 1. 2015-09-02. PMID:26331038. |
the cerebellar variant of msa (msa-c) denotes a distinctive motor subtype characterized by progressive adult onset sporadic gait ataxia, scanning dysarthria, limb ataxia and cerebellar oculomotor dysfunction. |
2015-09-02 |
2023-08-13 |
Not clear |
| Sushree Sangita Behura, Sarada Prasanna Swai. Neuropsychological functioning in Wernicke's encephalopathy. Industrial psychiatry journal. vol 24. issue 1. 2015-08-10. PMID:26257495. |
clinically, the key features are mental status disturbances (global confusion), oculomotor abnormalities, and gait disturbances (ataxia). |
2015-08-10 |
2023-08-13 |
Not clear |
| Jean Carroll, Tristan K W Page, Shih-Chieh Chiang, Bernadett Kalmar, David Bode, Linda Greensmith, Peter J Mckinnon, Julian R Thorpe, Majid Hafezparast, Sherif F El-Khamis. Expression of a pathogenic mutation of SOD1 sensitizes aprataxin-deficient cells and mice to oxidative stress and triggers hallmarks of premature ageing. Human molecular genetics. vol 24. issue 3. 2015-07-23. PMID:25274775. |
aprataxin (aptx) deficiency causes progressive cerebellar degeneration, ataxia and oculomotor apraxia in man. |
2015-07-23 |
2023-08-13 |
mouse |
| Matthew S Miller, Alexander Rialdi, Jessica Sook Yuin Ho, Micah Tilove, Luis Martinez-Gil, Natasha P Moshkina, Zuleyma Peralta, Justine Noel, Camilla Melegari, Ana M Maestre, Panagiotis Mitsopoulos, Joaquín Madrenas, Sven Heinz, Chris Benner, John A T Young, Alicia R Feagins, Christopher F Basler, Ana Fernandez-Sesma, Olivier J Becherel, Martin F Lavin, Harm van Bakel, Ivan Marazz. Senataxin suppresses the antiviral transcriptional response and controls viral biogenesis. Nature immunology. vol 16. issue 5. 2015-07-10. PMID:25822250. |
the human helicase senataxin (setx) has been linked to the neurodegenerative diseases amyotrophic lateral sclerosis (als4) and ataxia with oculomotor apraxia (aoa2). |
2015-07-10 |
2023-08-13 |
human |
| Melike Çağlayan, Julie K Horton, Rajendra Prasad, Samuel H Wilso. Complementation of aprataxin deficiency by base excision repair enzymes. Nucleic acids research. vol 43. issue 4. 2015-07-02. PMID:25662216. |
here, using cell extracts from aptx-deficient cell lines, human ataxia with oculomotor apraxia type 1 (aoa1) and dt40 chicken b cell, we found that pol β and fen1 enzymatic activities were prominent and strong enough to complement aptx deficiency. |
2015-07-02 |
2023-08-13 |
human |
| Junya Kobayashi, Yuichiro Saito, Michiyo Okui, Noriko Miwa, Kenshi Komats. Increased oxidative stress in AOA3 cells disturbs ATM-dependent DNA damage responses. Mutation research. Genetic toxicology and environmental mutagenesis. vol 782. 2015-06-22. PMID:25868131. |
ataxia with oculomotor apraxia types 1-3 (aoa1, 2, and 3) result in a neurodegenerative and cellular phenotype similar to at; however, the basis of this phenotypic similarity is unclear. |
2015-06-22 |
2023-08-13 |
Not clear |
| Xin Chen, Ulrika Müller, Kaitlin E Sundling, David A Bro. Saccharomyces cerevisiae Sen1 as a model for the study of mutations in human Senataxin that elicit cerebellar ataxia. Genetics. vol 198. issue 2. 2015-06-17. PMID:25116135. |
guided by sequence homology between the conserved helicase domains of sen1 and senataxin, we tested the effects of 13 missense mutations that cosegregate with the inherited disorder ataxia with oculomotor apraxia type 2 on sen1 function. |
2015-06-17 |
2023-08-13 |
human |
| Jose Bras, Isabel Alonso, Clara Barbot, Maria Manuela Costa, Lee Darwent, Tatiana Orme, Jorge Sequeiros, John Hardy, Paula Coutinho, Rita Guerreir. Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. American journal of human genetics. vol 96. issue 3. 2015-05-12. PMID:25728773. |
mutations in pnkp cause recessive ataxia with oculomotor apraxia type 4. |
2015-05-12 |
2023-08-13 |
Not clear |
| Jose Bras, Isabel Alonso, Clara Barbot, Maria Manuela Costa, Lee Darwent, Tatiana Orme, Jorge Sequeiros, John Hardy, Paula Coutinho, Rita Guerreir. Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. American journal of human genetics. vol 96. issue 3. 2015-05-12. PMID:25728773. |
we used homozygosity mapping and exome sequencing to study a cohort of nine portuguese families who were identified during a nationwide, population-based, systematic survey as displaying a consistent phenotype of recessive ataxia with oculomotor apraxia (aoa). |
2015-05-12 |
2023-08-13 |
Not clear |
| Bhavesh Trikamji, Nicholas Parziale, Nastaran Rafiei, Robert Freundlich, Shri Mishr. A case of an African American man with ataxia and oculomotor apraxia 2. Journal of clinical neuromuscular disease. vol 16. issue 1. 2015-05-11. PMID:25137517. |
a case of an african american man with ataxia and oculomotor apraxia 2. |
2015-05-11 |
2023-08-13 |
Not clear |
| Brent L Fogel, Ellen Cho, Amanda Wahnich, Fuying Gao, Olivier J Becherel, Xizhe Wang, Francesca Fike, Leslie Chen, Chiara Criscuolo, Giuseppe De Michele, Alessandro Filla, Abigail Collins, Angelika F Hahn, Richard A Gatti, Genevieve Konopka, Susan Perlman, Martin F Lavin, Daniel H Geschwind, Giovanni Coppol. Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2. Human molecular genetics. vol 23. issue 18. 2015-04-23. PMID:24760770. |
mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2. |
2015-04-23 |
2023-08-13 |
mouse |